The Phenotypic Spectrum of ATP1A3-Related Disorders: A Brazilian Cohort
Objective: To describe a case series of patients with ATP1A3 variants, analyzing their phenotypic presentation and genetic characteristics in Brazil. Background: ATP1A3-related disorders exhibit a complex…Arginase2 – a potential mediator in the pathology of the stratum
Objective: To investigate the effects of arginase 2 (Arg2) loss on the striatal mitochondria. Background: Arginase plays a role in the production of various metabolites…Hypothalamic Atrophy in CANVAS/RFC1
Objective: We aimed to investigate hypothalamic volumetry in CANVAS/RFC1. Background: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is now recognized as a late-onset multisystem…A Comprehensive Exploration of the Quality of Life and Caregiver Burden in Multiple System Atrophy
Objective: To evaluate the impact of MSA disease on QoL and caregiver burden and identify influencing factors of QoL in a large UK-based cohort Background:…A VUS and the Value of a Biomarker in Ataxia with Oculomotor Apraxia Type 2
Objective: Objective: To demonstrate the importance of serum biomarkers, such as alpha-fetoprotein (AFP), in the diagnostic evaluation of Ataxia with Oculomotor Apraxia Type 2 (AOA2).…Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia
Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia2. To describe the imaging findings and to assess the neuropsychological profile…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…Long-Term Safety and Efficacy of Valbenazine for Treating Huntington’s Disease Chorea
Objective: To present safety and efficacy results from a long-term study of once-daily valbenazine for chorea associated with Huntington’s disease (HD). Background: In a 12-week…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…Quantifying ataxia in RFC1-related disorder using wearable devices
Objective: We aimed to compare standing balance and postural conditions between RFC1 patients and healthy controls. Background: RFC1-related ataxia is a progressive neurological disorder affecting…
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